• Screening for chromosomal imbalances by array CGH, whether using cDNA 23 or BAC clones, 24 has mainly been performed on cancer samples, 25- 30 which usually contain large gene dose alterations. (bmj.com)
  • The karyotype demonstrated tumor cell patterns with aneuploidy and complex chromosomal aberrations. (biomedcentral.com)
  • This revealed no aberration of the chromosomal region containing the HMGA2 gene in the cohort, and HMGA2 expression was surprisingly only detectable in a single case. (annexpublishers.co)
  • We used a large number of existing chromosomal aberrations in the Scr homeotic gene to investigate the functions of the cis -acting elements within the endogenous gene. (nih.gov)
  • The chromosomal aberrations identified an imaginal leg enhancer about 35 kb upstream of the Scr promoter. (nih.gov)
  • The transcription units are shown above the genomic DNA, while chromosomal aberrations are shown below (solid triangles indicate insertions of transposable elements and upward arrows indicate breakpoints of translocations and inversions). (nih.gov)
  • Chromosomal aberrations ( red ) interfere with silencing in the adult second and third legs. (nih.gov)
  • complex alterations with more than three recurrent chromosomal aberrations in one clone. (altmeyers.org)
  • Our study showed CK was associated with decreased survival in childhood AML and its impact on outcome correlated with the number of chromosomal aberrations. (biomedcentral.com)
  • Using yet newer techniques for detecting abnormal chromosomes (called spectral karyotyping), Rowley found a chromosomal rearrangement that characterizes one of the childhood leukemias, and her work continues. (laskerfoundation.org)
  • The most frequent chromosomal abnormalities are partial losses of one affected chromosome ( del(6q) , del(11q) , del(13q) or del(17p) ) and gains of entire chromosomes ( trisomy 12). (atlasgeneticsoncology.org)
  • II-The RB1 gene, localized at chromosomal band 13q14.1-q14.2 that can be considered, when found deleted, as the marker of 13q deletion with larger chromosome losses (Ouillette et al. (atlasgeneticsoncology.org)
  • Indeed, most both benign and malignant neoplasias examined diligently were found to be characterized by more or less specific, but always non-random, chromosomal aberration patterns, whereas non-neoplastic cells never had similar chromosome changes. (medinfo.no)
  • The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)
  • Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints. (metasystems-probes.com)
  • We found significant increases in the MN frequency and induced chromosomal aberrations in the lymphocytes of only one donor after ethyl-paraben exposure in the presence of S9 after a short exposure. (metasystems-probes.com)
  • Apart from the typical translocation t(11;14)(q13;q32) and more rare variants, such as t(2;11)(p11;q13) and t(11;22)(q13;q11), a considerable number of patients quite often show secondary molecular and chromosomal aberrations underlying heterogeneity of the clinical course of MCL. (bloodjournal.ru)
  • But genomic hybridazation cannot detect chromosomial aberrations of less than 2 kilobases, the authors thus acknowledge that a small chromosomal change can be present. (globale-dermatologie.com)
  • But even so, many researchers continued to believe that genetic aberrations were the result, not the cause, of malignancy. (laskerfoundation.org)
  • 2014). Although is characterized by a relatively stable genome, acquired genetic aberrations have an important role in CLL prognosis. (atlasgeneticsoncology.org)
  • Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
  • Cancer is thought to arise through the accumulation of genomic aberrations evolving under Darwinian selection. (nature.com)
  • Here we analyze sequencing data from 151 primary UM samples using a customized bioinformatic pipeline, to improve detection of BAP1 mutations and infer the clonal relationships among genomic aberrations. (nature.com)
  • Strikingly, we find BAP1 mutations and other canonical genomic aberrations usually arise in an early punctuated burst, followed by neutral evolution extending to the time of clinical detection. (nature.com)
  • Despite success in identifying these canonical genomic aberrations in UM, how and when these events arise during tumor evolution remains unknown. (nature.com)
  • This approach reveals many previously undetected BAP1 and spliceosome mutations, and uncovers strong evidence that the canonical genomic aberrations in UM usually arise in an early, punctuated burst followed by clonal stasis. (nature.com)
  • Genomic aberrations on chromosome 8 are common in colon cancer, and are associated with lymph node and distant metastases as well as with disease susceptibility. (figshare.com)
  • This prompted us to generate a high-resolution map of genomic imbalances of chromosome 8 in 51 primary colon carcinomas using a custom-designed genomic array consisting of a tiling path of BAC clones. (figshare.com)
  • Our comprehensive map of the colon cancer genome confirmed recurrent and specific low-level copy number changes of chromosomes 7, 8, 13, 18, and 20, and unveiled additional, novel sites of genomic imbalances including amplification of a histone gene cluster on chromosome 6p21.1-21.33 and deletions on chromosome 4q34-35. (figshare.com)
  • Identification of regions with copy number aberrations and the genes involved thus offers a basis for better understanding of cancer development [ 6 ]. (biomedcentral.com)
  • Rowley had identified the first "translocation" in cancer, providing clear evidence that the cause of CML could be related to the fact that by moving from one chromosome to another, the aberrant segment of chromosome 22 was no longer sitting next to genes that controlled its behavior. (laskerfoundation.org)
  • This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. (cancerindex.org)
  • The next most prevalent aberrations include a cohort of chromatin-modifying genes with diverse roles including PBRM1 , SETD2 , BAP1 , and KMD5C . (springer.com)
  • HMGA2 is located in an area on chromosome 12q13 frequently involved in translocations and amplifications in benign, mesenchymal tumors. (annexpublishers.co)
  • Rowley and her colleagues subsequently identified several other signal chromosome translocations, including one characteristic of acute myeloblastic leukemia. (laskerfoundation.org)
  • Quickly picking up on her lead that translocations contribute to malignancy, scientists around the world joined the search for chromosomes that either switched genetic material or, in some cases, lost it altogether in a process known as "deletion. (laskerfoundation.org)
  • This may involve the addition or loss of chromosome material like chromosome deletions, chromosome duplications, chromosome insertions, chromosome inversions or chromosome translocations. (medinfo.no)
  • UMs are also associated with a small set of recurrent chromosome copy number alterations (CNAs), which tend to occur in the context of a specific GEP class and BSE mutation 12 . (nature.com)
  • In addition, there are only a small number of recurrent copy number aberrations and rare gene fusions. (springer.com)
  • Recently, a second clonal event involving the HMGA2 gene was reported in some PNH cases, and over expression of this gene was postulated to promote proliferation of the mutated clone. (annexpublishers.co)
  • Unlike dysplastic clones in myelodysplastic syndrome (MDS), which harbour intrinsic defects that predispose the cells to clonal evolution, external factors, such as pressure exerted by the immune system, have for a long time been speculated to be the main causes for clonal escape in PNH [ 5 ]. (annexpublishers.co)
  • Acute myeloid leukemia (AML) is a group of clonal hematopoietic neoplasms that are characterized by aberrations in maturation, proliferation, and survival in the stem and progenitor cell compartments. (biomedcentral.com)
  • Chromosome transplanted clones maintained in vitro and in vivo features of stemness and contributed to chimera formation. (oncotarget.com)
  • In contrast to chronic myeloid leukemia (CML), different cytogenetic aberrations are found in AML. (altmeyers.org)
  • However, it remains unclear when the aberrations associated with metastasis emerge during tumor evolution. (nature.com)
  • Nowell collaborated with the late David Hungerford who, he says, "knew more about chromosomes than I did," and together they made the startling observation that individuals suffering from chronic myelogenous leukemia (CML) had an abnormally small chromosome in the tumor cells. (laskerfoundation.org)
  • To find out which chromosome aberrations characterized which tumor types therefore emerged as a very fruitful field of research. (medinfo.no)
  • The location of this clock gene was delimited by the molecular mapping of chromosome aberrations at or very near the per locus. (nih.gov)
  • Objective】 This study was aimed to clone the Toll-like receptor 4 (TLR4) gene in Cygnus olor and analyze its encoded protein by bioinformatics,so as to provide an important reference basis for further exploring the immune mechanism of TLR4 protein against pathogenic microorganisms in Cygnus olor . (chvm.net)
  • Method】 The sequence of TLR 4 gene CDS in Cygnus olor was amplified by PCR and cloned.NCBI-BLAST and Mega-X were used for sequence comparison and phylogenetic tree construction.The structure and function of TLR4 protein and its interaction with host protein were predicted using ProtParam,SWISS-MODEL,etc. (chvm.net)
  • They described two patients with PNH with an acquired rearrangement of chromosome 12 affecting the HMGA2 gene, which encodes a chromatin remodeling protein, in the PIGA mutant cells [ 12 ]. (annexpublishers.co)
  • When not physically linked, the elements interact with elements on the homologous chromosome and cause derepression of its wild-type Scr gene. (nih.gov)
  • The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)
  • 1 , 2 The gene mutated in AT was identified through positional cloning and designated ATM (mutated in AT) in the mid-1990s. (bmj.com)
  • In the case with the 7p15 breakpoint, a BAC clone containing the HOXA gene cluster displayed a split signal, suggesting a possible creation of a fusion gene involving a member of the HOXA family. (lu.se)
  • He suggested to introduce the term chromosomics being equal to cytogenomics to bring the three-dimensional morphologically of chromosomes into the focus of research, as this is essential for gene regulation. (frontiersin.org)
  • The HUMARA gene contains two alleles located on the X chromosome. (globale-dermatologie.com)
  • Indeed, in a clone of cells, only one of the alleles is expressed, because the same X chromosome is inactivated by lyonisation{Allen, 1992}, in a clone, whereas in normal {Nakamura, 2001} skin (polyclonal), the inactivated HUMARA gene allele isn't always on the same X chromosome. (globale-dermatologie.com)
  • This gene is located on the X chromosome and one of the alleles is thus inactivated. (globale-dermatologie.com)
  • Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)
  • The approach here proposed, with some modifications, might be used to cure various disorders due to other X chromosome aberrations in induced pluripotent stem (iPS) cells derived from affected patients. (oncotarget.com)
  • Chromosome analysis was performed on samples from 20 Brazilian patients with breast cancer. (uchile.cl)
  • Our study provides an invaluable database revealing common and differential imbalance regions at specific chromosomes among Asian and Caucasian lung cancer patients. (biomedcentral.com)
  • At a time when the idea that cancer had a genetic basis was widely disbelieved, Nowell's results provided the first clear evidence that a particular genetic defect in a single chromosome can lead to a population or clone of identical cells that accumulate in numbers to form a deadly malignancy. (laskerfoundation.org)
  • The tiny Philadelphia chromosome became a clear and consistent marker of CML, a cancer of the myeloid or bone marrow cells, with broad implications for diagnosis and prognosis of disease. (laskerfoundation.org)
  • Clone Y5 can be used to test for retention of the proximally long arm Y suggested to cause gonadal cancer in carrier females. (barrowneuro.org)
  • Any change in the number, size or structure of our chromosomes may cause a change in the amount or arrangement of genetic information, and further may lead to a cancer development. (medinfo.no)
  • Here we report the first successful case of chromosome transplantation by replacement of an endogenous X chromosome carrying a mutation in the Hprt genewith a normal one in mouse embryonic stem cells (ESCs), correcting the genetic defect. (oncotarget.com)
  • Despite the large chromosome fragments involved in the unbalanced translocation in this case, repeated standard G-band analysis could not reveal this rearrangement due to the similarity in the banding pattern of the chromosome fragments involved. (bmj.com)
  • Ten cases with known cryptic aberrations were selected (seven cases with subtelomeric rearrangements, one case with an interstitial deletion and two cases with microdeletion syndromes: one case with DiGeorge syndrome and one case with a microdeletion of 17p11 (Smith Magenis syndrome) in 60% of the lymphocytes). (bmj.com)
  • In a control cohort of 68 human lymphocytes, telomere length and telomere aberrations were age-dependent and showed high inter-individual variation. (metasystems-probes.com)
  • 31, 32 In this report we used a cDNA micro-array and two BAC clone micro-arrays on 10 previously identified cases containing 16 cryptic chromosome aberrations, to test their performance for the detection of small imbalances. (bmj.com)
  • Chromosome transplantation, defined as the perfect replacement of an endogenous chromosome with a homologous one, has the potential of curing this kind of disorders. (oncotarget.com)
  • The enhancer is not only able to activate transcription of the Scr promoter that is 35 kb distant but can also activate transcription of the Scr promoter on the homologous chromosome. (nih.gov)
  • The tendency toward chromosome fragility is one of the theories that may explain chromosome variation in brocket deer species (genus Mazama). (uchile.cl)
  • The long series of GA repeats in Y5, anticipated to be polymorphic, may provide a sensitive means to follow Y chromosome variation in human populations. (barrowneuro.org)
  • Microarray-based techniques for genome-wide investigation of copy number aberrations (CNAs) have recently gained much attention. (biomedcentral.com)
  • Using several BAC clones, the breakpoints at 17q23 in both cases were mapped within a 350-kb region. (lu.se)
  • It is worth noting that in science nothing is quite as powerful as a prepared mind armed with new technology and in the early 1970s geneticists perfected the art of "banding," a new way of visualizing chromosomes with great clarity. (laskerfoundation.org)
  • Using banding technology, she discovered that the tiny Philadelphia chromosome was missing a piece of itself. (laskerfoundation.org)
  • The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing. (metasystems-probes.com)
  • She got a grant to study chromosomes and, when she returned to Chicago, even though she had "no special interest in chromosome abnormalities in hematological diseases," the course of her research was set by her ready response to clinical colleagues who frequently asked her to study their patients. (laskerfoundation.org)
  • 3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
  • Currently, specialized high-density arrays with oligonucleotide probes or probes derived from BAC clones are predominately used. (biomedcentral.com)
  • Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
  • and Golbus, M S, "Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
  • 19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)
  • All chromosome imbalances were size mapped using BAC and PAC clones based on clone mapping databases ( www.ensembl.org , July 2003), except for case 9, which was size mapped using a chromosome 22 specific micro-array. (bmj.com)
  • A group of related diseases characterized by an unbalanced or disproportionate proliferation of immunoglobulin-producing cells, usually from a single clone. (lookformedical.com)
  • Therefore, identification and characterization of the chromosome regions with DNA copy number alteration in Western and Asian countries is important to unravel the mechanism underlying lung tumorigenesis. (biomedcentral.com)
  • In 1960, Peter Nowell discovered the "Philadelphia chromosome. (laskerfoundation.org)
  • What made Nowell and Hungerford notice the Philadelphia chromosome, named after the city in which they worked, was its size. (laskerfoundation.org)
  • Likewise, more than a decade passed before scientists understood exactly why the Philadelphia chromosome was so small. (laskerfoundation.org)
  • In 1960, solid evidence in favor of this theory was for the first time provided when the same small marker chromosome (the Philadelphia (Ph) chromosome, see figure) was found in bone marrow cells from three patients with chronic myeloid leukemia. (medinfo.no)
  • Moreover, a tiny piece of chromosome 9, which carried an oncogene, had moved to the breakpoint on chromosome 22. (laskerfoundation.org)
  • Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)
  • Clone Y5 was sublocalized to band Yq 11.22 by hybridization to a panel of cellular DNA from patients with Y chromosome rearrangements. (barrowneuro.org)
  • Possible approaches for cytogenomic assessment of couples with balanced chromosome rearrangements and problems like reproductive failures were considered and suggested as useful part of effective genetic counseling. (metasystems-probes.com)
  • To address this issue, we used multicolor combined binary ratio fluorescence in situ hybridization (FISH), which allows the simultaneous visualization of all 24 chromosomes in different colors, verified by locus-specific FISH in a series of 33 CML cases. (lu.se)
  • Altogether, a refined karyotypic description was achieved in 12 (36%) of the 33 investigated cases, illustrating the value of using multicolor FISH for identifying pathogenetically important aberrations in CML AP/BC. (lu.se)
  • Related to the size of abnormal clone (detected by FISH), patients with a higher percentage of altered nuclei (cut-off point ranged from 65-90%) have a bad prognosis (van Dyke et al. (atlasgeneticsoncology.org)
  • The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. (lookformedical.com)
  • [16] Kallak H, J?rvek?lg L. Changes in chromosome complement in long-term pea callus cultures. (org.ua)
  • Clone Y1 hybridized to multiple restriction enzyme fragments in both male and female DNA with more intense bands in male DNA. (barrowneuro.org)
  • Clone Y2, also found in female and male DNA, is probably located in the pseudosutosomal region because extra copies of either the X or Y chromosomes increased Y2 restriction enzyme fragment intensity in total cellular DNA. (barrowneuro.org)
  • This is AML with myelodysplasia-associated cytogenetic alterations, which includes a whole range of unbalanced and balanced aberrations. (altmeyers.org)
  • In addition the substance did not induce chromosome aberrations in a chromosome aberration study wit and without metabolic activation. (europa.eu)
  • The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)
  • We used the Crisper/Cas9 methodology to generate chromosomes lacking one, two, or three of the silencing elements. (nih.gov)
  • Loss of heterozygosity for chromosome 3 (LOH3) is frequently found in BAP1 -mutant class 2 tumors and is thought to represent the "second hit" in the bi-allelic loss of BAP1 , located at chromosome 3p21 9 . (nature.com)
  • The clone forming capacity of cells exposed to split 4NQ0 treatments was investigated. (ndltd.org)
  • Somatic, inactivating PIGA mutations in haematopoietic stem cells, followed by an unknown autoimmune selection process in favor of the mutated clone, are thought to be important events in the pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH). (annexpublishers.co)
  • Staining them with a special dye made the cells' chromosomes more visible. (laskerfoundation.org)
  • It was only four years earlier that the precise number of human chromosomes had been fixed at 46 and chromosome studies were, by today's standards, quite primitive. (laskerfoundation.org)
  • This analysis confirmed the dominant role of this chromosome. (figshare.com)
  • With a 9 hour interval between treatments the cloning capacity was again at the expected value. (ndltd.org)
  • Chromosome specific micro-arrays have however been used in a few cases to determine the critical regions in microdeletion disorders. (bmj.com)